Varaico: Literature-Extracted Genetic Variants

BRCA1

8,702 papers

RefSeq Summary

This gene encodes a 190 kD nuclear phosphoprotein that plays a role in maintaining genomic stability, and it also acts as a tumor suppressor. The BRCA1 gene contains 22 exons spanning about 110 kb of ...

Pfam Domains

zf-RING_UBOXaa 24–52UCSCRING-type zinc-finger

zf-C3HC4aa 24–64UCSCZinc finger, C3HC4 type (RING finger)

BRCT_assocaa 345–508UCSCSerine-rich domain associated with BRCT

BRCTaa 1642–1723UCSCBRCA1 C Terminus (BRCT) domain

BRCTaa 1756–1842UCSCBRCA1 C Terminus (BRCT) domain

Gene Aliases

HGNC Name

BRCA1 DNA repair associated

HGNC Alias Symbols

RNF53; BRCC1; PPP1R53; FANCS

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_007294.4

p.T1307T

c.3921T>G

Surrounding Variants

2 papers

NM_007294.4

p.T1307T

c.3921T>C

14 papers

NM_007294.4

p.A1308S

c.3922G>T

1 paper

NM_007294.4

p.A1308T

c.3922G>A

1 paper

NM_007294.4

p.T1307del1

c.3919_3920delAGT

1 paper

NM_007294.4

p.T1307I

c.3920C>T

1 paper

NM_007294.4

p.T1307delFs

c.3919delT

2 papers

NM_007294.4

p.T1307fs

c.3919_3920fs

2 papers

NM_007294.4

p.A1308V

c.3923C>T

1 paper

NM_007294.4

p.L1306delFs

c.3918delC

1 paper

NM_007294.4

p.D1305_L1306del2

c.3913_3917del6

1 paper

NM_007294.4

p.E1302_L1306del5

c.3904_3917del15

3 papers

NM_007294.4

p.L1306F

c.3918G>T